"Ambry Genetics"[submitter] AND "AGL"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291322	NM_000642.3(AGL):c.82+4A>C	AGL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3276009	NM_000642.3(AGL):c.101G>C (p.Arg34Pro)	AGL (R18P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043208	NM_000642.3(AGL):c.122G>A (p.Gly41Glu)	AGL (G41E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071780	NM_000642.3(AGL):c.136G>C (p.Val46Leu)	AGL (V30L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 848952	NM_000642.3(AGL):c.136G>T (p.Val46Leu)	AGL (V46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 945853	NM_000642.3(AGL):c.187C>T (p.Arg63Cys)	AGL (R47C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967438	NM_000642.3(AGL):c.188G>A (p.Arg63His)	AGL (R47H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 565832	NM_000642.3(AGL):c.248T>G (p.Leu83Arg)	AGL (L83R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 291324	NM_000642.3(AGL):c.334A>G (p.Ile112Val)	AGL (I112V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 576547	NM_000642.3(AGL):c.341G>A (p.Arg114His)	AGL (R114H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +3 more	GUncertain significance
Select item 3276038	NM_000642.3(AGL):c.347G>C (p.Gly116Ala)	AGL (G116A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095921	NM_000642.3(AGL):c.509G>C (p.Arg170Thr)	AGL (R170T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291325	NM_000642.3(AGL):c.515G>C (p.Cys172Ser)	AGL (C172S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2273500	NM_000642.3(AGL):c.517T>C (p.Tyr173His)	AGL (Y173H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095929	NM_000642.3(AGL):c.559A>G (p.Arg187Gly)	AGL (R61G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456512	NM_000642.3(AGL):c.622T>C (p.Trp208Arg)	AGL (W208R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 439395	NM_000642.3(AGL):c.767G>A (p.Arg256His)	AGL (R256H +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 842722	NM_000642.3(AGL):c.818C>G (p.Ala273Gly)	AGL (A257G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2164238	NM_000642.3(AGL):c.833A>G (p.Asp278Gly)	AGL (D262G +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 3095948	NM_000642.3(AGL):c.838C>T (p.His280Tyr)	AGL (H154Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 571944	NM_000642.3(AGL):c.841A>G (p.Met281Val)	AGL (M281V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 385974	NM_000642.3(AGL):c.854G>A (p.Arg285Gln)	AGL (R285Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3095953	NM_000642.3(AGL):c.895T>A (p.Trp299Arg)	AGL (W173R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313526	NM_000642.3(AGL):c.895T>G (p.Trp299Gly)	AGL (W283G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2146627	NM_000642.3(AGL):c.994C>T (p.His332Tyr)	AGL (H332Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 521450	NM_000642.3(AGL):c.1000dup (p.Thr334fs)	AGL (T318fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 445557	NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)	AGL (R343Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 843349	NM_000642.3(AGL):c.1042G>A (p.Val348Ile)	AGL (V348I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1434374	NM_000642.3(AGL):c.1049T>C (p.Met350Thr)	AGL (M334T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1428873	NM_000642.3(AGL):c.1072A>G (p.Ile358Val)	AGL (I358V +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 456449	NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)	AGL (P359L +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 1002645	NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)	AGL (I373F +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 966513	NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)	AGL (Y375C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 644418	NM_000642.3(AGL):c.1187C>T (p.Ala396Val)	AGL (A396V +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 1023992	NM_000642.3(AGL):c.1235A>G (p.His412Arg)	AGL (H396R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 842532	NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)	AGL (T411I +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 256721	NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)	AGL (S440F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1482919	NM_000642.3(AGL):c.1321A>G (p.Met441Val)	AGL (M425V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GConflicting classifications of pathogenicity
Select item 652006	NM_000642.3(AGL):c.1421C>G (p.Pro474Arg)	AGL (P458R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 568403	NM_000642.3(AGL):c.1423+3A>G	AGL	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 2522411	NM_000642.3(AGL):c.1507C>T (p.Pro503Ser)	AGL (P487S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 580077	NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)	AGL (T513S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 526582	NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)	AGL (T518A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2298595	NM_000642.3(AGL):c.1631G>C (p.Arg544Thr)	AGL (R544T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 939450	NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)	AGL (N533S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2314947	NM_000642.3(AGL):c.1686T>G (p.Asp562Glu)	AGL (D562E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 291333	NM_000642.3(AGL):c.1759C>T (p.His587Tyr)	AGL (H587Y +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 2548513	NM_000642.3(AGL):c.1781A>G (p.Tyr594Cys)	AGL (Y594C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456459	NM_000642.3(AGL):c.1810T>G (p.Phe604Val)	AGL (F604V +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 1404662	NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr)	AGL (C608Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 944004	NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)	AGL (R594K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2912277	NM_000642.3(AGL):c.1832C>A (p.Pro611His)	AGL (P543H +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 3276030	NM_000642.3(AGL):c.1853A>T (p.His618Leu)	AGL (H602L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456460	NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)	AGL (I632T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2155939	NM_000642.3(AGL):c.1918G>T (p.Ala640Ser)	AGL (A624S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 950117	NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)	AGL (G659S +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 1394482	NM_000642.3(AGL):c.2036del (p.Lys679fs)	AGL (K663fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 940734	NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)	AGL (G690C +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 972403	NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)	AGL (I705T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095760	NM_000642.3(AGL):c.2177A>G (p.Asp726Gly)	AGL (D658G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 663772	NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)	AGL (Q725R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 291337	NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)	AGL (A750S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2060523	NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)	AGL (K761N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 656315	NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)	AGL (G754R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3095768	NM_000642.3(AGL):c.2353A>G (p.Asn785Asp)	AGL (N659D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 835825	NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)	AGL (E789K +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 424411	NM_000642.3(AGL):c.2486A>G (p.Asn829Ser)	AGL (N829S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 526579	NM_000642.3(AGL):c.2488G>C (p.Glu830Gln)	AGL (E830Q +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 746853	NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)	AGL (Q817K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 456473	NM_000642.3(AGL):c.2506G>A (p.Glu836Lys)	AGL (E836K +4 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 256727	NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)	AGL (S841F +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2268158	NM_000642.3(AGL):c.2567C>G (p.Ala856Gly)	AGL (A856G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175927	NM_000642.3(AGL):c.2659A>G (p.Ile887Val)	AGL (I887V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 371344	NM_000642.3(AGL):c.2681+1G>T	AGL	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3095791	NM_000642.3(AGL):c.2705C>T (p.Ala902Val)	AGL (A834V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1056579	NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)	AGL (G937R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3095794	NM_000642.3(AGL):c.2860C>A (p.His954Asn)	AGL (H886N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456478	NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)	AGL (R977Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1015861	NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)	AGL (G963R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 291339	NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)	AGL (Q989R +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2063244	NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)	AGL (R1000C +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 2244613	NM_000642.3(AGL):c.3038G>A (p.Gly1013Asp)	AGL (G997D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274924	NM_000642.3(AGL):c.3079T>G (p.Ser1027Ala)	AGL (S1011A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 972497	NM_000642.3(AGL):c.3116A>T (p.His1039Leu)	AGL (H1023L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2197143	NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)	AGL (I1058S +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 972279	NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)	AGL (R1081C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 456488	NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys)	AGL (R1116C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1362745	NM_000642.3(AGL):c.3347G>A (p.Arg1116His)	AGL (R1100H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2517331	NM_000642.3(AGL):c.3353T>G (p.Val1118Gly)	AGL (V1118G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364096	NM_000642.3(AGL):c.3382G>A (p.Ala1128Thr)	AGL (A1128T +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 3095828	NM_000642.3(AGL):c.3415C>G (p.Leu1139Val)	AGL (L1071V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934732	NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)	AGL (G1143V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 291342	NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)	AGL (I1144N +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GConflicting classifications of pathogenicity
Select item 3095842	NM_000642.3(AGL):c.3443A>G (p.Tyr1148Cys)	AGL (Y1022C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 526567	NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)	AGL (R1151W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 456490	NM_000642.3(AGL):c.3546G>A (p.Met1182Ile)	AGL (M1182I +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +1 more	GUncertain significance
Select item 291343	NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)	AGL (T1195R +6 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III +2 more	GUncertain significance
Select item 1376413	NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu)	AGL (Q1189E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 456495	NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)	AGL (E1233K +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1055299	NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)	AGL (G1257V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 2